Grant: Project Grant

Genetic testing for inherited breast cancer has primarily focused on the BRCA1 and BRCA2 (BRCA) genes, however with the introduction of multi-gene next generation sequencing (NGS) tests, more women are being identified with mutations in other cancer-predisposition genes including ATM. Mutations in ATM are amongst the most commonly identified mutations in women with breast cancer after BRCA1 and BRCA2. It is unknown if treatment should be personalized for women with an ATM mutation to maximize survival rates. Although we are identifying more women with ATM mutations, our understanding of what clinical actions should be recommended to these women is limited. The overall objective of this study is to estimate the five-year survival for women with an ATM mutation and breast cancer by tumour stage, and to evaluate the effects of surgical and medical treatments on survival. This study will be a longitudinal cohort study in which we will follow 800 women with an ATM mutation from the time of breast cancer diagnosis until death, or date of last follow-up. Subjects will be recruited from cancer genetics clinics throughout the world as identified through individual cancer genetics clinics, existing registries. Each subject will be asked to complete a questionnaire and medical records will be requested. Subjects will be contacted every year to update information on other treatments, recurrences, new cancers, and vital status. This will be the first large scale study to assess treatment in ATM-associated breast cancer; and it is expected that the results will inform clinical care and increase survival in this sub-group of women with breast cancer.